Literature DB >> 30040974

Primary immunodeficiency disorder caused by phosphoinositide 3-kinase δ deficiency.

Georgios Sogkas1, Mykola Fedchenko2, Akshay Dhingra3, Alexandra Jablonka4, Reinhold E Schmidt4, Faranaz Atschekzei4.   

Abstract

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Year:  2018        PMID： 30040974     DOI： 10.1016/j.jaci.2018.06.039

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  23 in total

Review 1.  Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD-the Goldilocks' Effect.

Authors:  Stuart G Tangye; Julia Bier; Anthony Lau; Tina Nguyen; Gulbu Uzel; Elissa K Deenick
Journal:  J Clin Immunol       Date:  2019-03-25       Impact factor: 8.317

2.  Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ.

Authors:  David J Swan; Dominik Aschenbrenner; Christopher A Lamb; Krishnendu Chakraborty; Jonathan Clark; Sumeet Pandey; Karin R Engelhardt; Rui Chen; Athena Cavounidis; Yuchun Ding; Natalio Krasnogor; Christopher D Carey; Meghan Acres; Stephanie Needham; Andrew J Cant; Peter D Arkwright; Anita Chandra; Klaus Okkenhaug; Holm H Uhlig; Sophie Hambleton
Journal:  Haematologica       Date:  2019-05-09       Impact factor: 9.941

Review 3.  Phosphoinositide 3-kinase δ is a regulatory T-cell target in cancer immunotherapy.

Authors:  Ee Lyn Lim; Klaus Okkenhaug
Journal:  Immunology       Date:  2019-07       Impact factor: 7.397

4.  Diagnostic Yield and Therapeutic Consequences of Targeted Next-Generation Sequencing in Sporadic Primary Immunodeficiency.

Authors:  Georgios Sogkas; Natalia Dubrowinskaja; Katharina Schütz; Lars Steinbrück; Jasper Götting; Nicolaus Schwerk; Ulrich Baumann; Bodo Grimbacher; Torsten Witte; Reinhold E Schmidt; Faranaz Atschekzei
Journal:  Int Arch Allergy Immunol       Date:  2021-10-07       Impact factor: 2.749

5.  Human primary immunodeficiency caused by expression of a kinase-dead p110δ mutant.

Authors:  Sarah Beaussant Cohen; Wayne Bainter; Jared L Johnson; Ting-Yu Lin; Jenny C Y Wong; Jacqueline G Wallace; Jennifer Jones; Sonia Qureshi; Fatima Mir; Farah Qamar; Lewis C Cantley; Raif S Geha; Janet Chou
Journal:  J Allergy Clin Immunol       Date:  2018-10-16       Impact factor: 10.793

Review 6.  Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.

Authors:  Emily S J Edwards; Julian J Bosco; Samar Ojaimi; Robyn E O'Hehir; Menno C van Zelm
Journal:  Cell Mol Immunol       Date:  2020-08-17       Impact factor: 11.530

Review 7.  Activated PI3Kinase Delta Syndrome-A Multifaceted Disease.

Authors:  Romane Thouenon; Nidia Moreno-Corona; Lucie Poggi; Anne Durandy; Sven Kracker
Journal:  Front Pediatr       Date:  2021-06-25       Impact factor: 3.418

8.  Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith-Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling.

Authors:  Nidia Moreno-Corona; Loïc Chentout; Lucie Poggi; Romane Thouenon; Cecile Masson; Melanie Parisot; Lou Le Mouel; Capucine Picard; Isabelle André; Marina Cavazzana; Laurence Perrin; Anne Durandy; Saba Azarnoush; Sven Kracker
Journal:  Front Pediatr       Date:  2021-06-24       Impact factor: 3.418

9.  The PI-3-Kinase P110α Catalytic Subunit of T Lymphocytes Modulates Collagen-Induced Arthritis.

Authors:  María Montes-Casado; Gloria Ojeda; Gabriel Criado; José M Rojo; Pilar Portolés
Journal:  Int J Mol Sci       Date:  2021-06-15       Impact factor: 5.923

10.  Phosphoinositide 3-Kinase p110 Delta Differentially Restrains and Directs Naïve Versus Effector CD8+ T Cell Transcriptional Programs.

Authors:  Laura Spinelli; Julia M Marchingo; Aneela Nomura; Marcos P Damasio; Doreen A Cantrell
Journal:  Front Immunol       Date:  2021-06-18       Impact factor: 7.561
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